Rare Disease Day 2019
Today is rare disease day. Did you know that one in 10 people will suffer with a rare disease at some point in their lives? 50% of those people are children. (Nearly 30% of those children will not make it to their fifth birthday. :( ) These Children are often referred to as "zebra kids" because physicians are taught "if you hear hoofbeats, think horses, not zebras." So that physicians don't go around over diagnosing a rare disease. Unfortunately, this often leads to misdiagnosis or no diagnosis at all. The average amount of time it takes to make a proper diagnosis is 8 years!
Before I had Silas, I hadn't really ever heard of Epidermylosis Bullosa (EB) before. I had maybe seen a commercial or clip for a documentary on butterfly children once or twice, but I really had no idea what it was, and never in a million years would I have guessed that one of my children would be born with this condition. Upon Silas' birth, I was terrified of the unknown. I felt both isolated and slightly robbed of my newborn, but at the same time blessed. A feeling that many may resonate with. I felt like the world was foreign and new again. My confidence as a mother momentarily stripped as we drove into the unknown.
Luckily for me, I was able to find great comfort in an amazing online community. The EB community is strong and close and ever supportive. We as parents now have the technology to connect, support each other, problem solve, and give advice that no standard medical proffessional (or even specialist for that matter) may know the answers to, and are closely connected with a wonderful foundation (Debra.org) that helps EB patients and parents whenever they truly need it. In this way, we have been lucky, as 1 in 2 people don't have a foundation or research support group. The theme for Rare Disease Day 2019 is 'Bridging health and social care'. Focusing on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face every day. I encourage you to go online and search your local rare disease group, join the conversation, and reach out to other zebra families as well. Social media can be a powerful conversation tool if used well, it can help parents and heathcare proffessionals gather info, concerns, or important questions in a group setting much more easily than before. Eb only affects about a half a million people, worldwide. Most physicians will never come across a person with EB in their entire career.
Lastly, I'd like to share a few stats and a link to a wonderful book called "Rare is Everywhere" by Deborah Katz. This book teaches children that being rare can be wonderful, and rare is all around us. (This is not a paid endorsement, no affiliation, just a wonderful book we discovered through our geneticist at #bcch.)
And now I'll leave you with a few stats.
- Number of known rare diseases: 7,000, with more discovered every year.
- Percentage of rare diseases caused by abnormal genes: 80 percent.
- Percentage of rare diseases with an FDA-approved treatment: 5 percent. (meaning 95% lack treatment)
-80% of rare diseases are due to genetic mutation
-all rare disease foundations could benefit greatly from more support. use these hashhtags &
#showyourrare #rarediseaseday
Before I had Silas, I hadn't really ever heard of Epidermylosis Bullosa (EB) before. I had maybe seen a commercial or clip for a documentary on butterfly children once or twice, but I really had no idea what it was, and never in a million years would I have guessed that one of my children would be born with this condition. Upon Silas' birth, I was terrified of the unknown. I felt both isolated and slightly robbed of my newborn, but at the same time blessed. A feeling that many may resonate with. I felt like the world was foreign and new again. My confidence as a mother momentarily stripped as we drove into the unknown.
Luckily for me, I was able to find great comfort in an amazing online community. The EB community is strong and close and ever supportive. We as parents now have the technology to connect, support each other, problem solve, and give advice that no standard medical proffessional (or even specialist for that matter) may know the answers to, and are closely connected with a wonderful foundation (Debra.org) that helps EB patients and parents whenever they truly need it. In this way, we have been lucky, as 1 in 2 people don't have a foundation or research support group. The theme for Rare Disease Day 2019 is 'Bridging health and social care'. Focusing on bridging the gaps in the coordination between medical, social and support services in order to tackle the challenges that people living with a rare disease and their families around the world face every day. I encourage you to go online and search your local rare disease group, join the conversation, and reach out to other zebra families as well. Social media can be a powerful conversation tool if used well, it can help parents and heathcare proffessionals gather info, concerns, or important questions in a group setting much more easily than before. Eb only affects about a half a million people, worldwide. Most physicians will never come across a person with EB in their entire career.
Lastly, I'd like to share a few stats and a link to a wonderful book called "Rare is Everywhere" by Deborah Katz. This book teaches children that being rare can be wonderful, and rare is all around us. (This is not a paid endorsement, no affiliation, just a wonderful book we discovered through our geneticist at #bcch.)
And now I'll leave you with a few stats.
- Number of known rare diseases: 7,000, with more discovered every year.
- Percentage of rare diseases caused by abnormal genes: 80 percent.
- Percentage of rare diseases with an FDA-approved treatment: 5 percent. (meaning 95% lack treatment)
-80% of rare diseases are due to genetic mutation
-all rare disease foundations could benefit greatly from more support. use these hashhtags &
#showyourrare #rarediseaseday
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